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Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle

Barrientos, Genaro C; Feng, Wei; Truong, Kim; Matthaei, Klaus; Yang, Tianzhong; Allen, Paul D; Lopez, Jose R; Pessah, Issac N


Malignant hyperthermia susceptibility (MHS) is primarily conferred by mutations within ryanodine receptor type 1 (RYR1). Here we address how the MHS mutation T4826I within the S4-S5 linker influences excitation-contraction coupling and resting myoplasmic

CollectionsANU Research Publications
Date published: 2012
Type: Journal article
Source: Journal of Biological Chemistry
DOI: 10.1074/jbc.M111.307926
Access Rights: Open Access


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